@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP51092.RA4Q9lF_wCpakDa-i1xE3ziEAOQ5jGo7AphNYL9KhB1XA130_head { this: np:hasAssertion dgn-np:NP51092.RA4Q9lF_wCpakDa-i1xE3ziEAOQ5jGo7AphNYL9KhB1XA130_assertion; np:hasProvenance dgn-np:NP51092.RA4Q9lF_wCpakDa-i1xE3ziEAOQ5jGo7AphNYL9KhB1XA130_provenance; np:hasPublicationInfo dgn-np:NP51092.RA4Q9lF_wCpakDa-i1xE3ziEAOQ5jGo7AphNYL9KhB1XA130_publicationInfo; a np:Nanopublication . dgn-np:NP51092.RA4Q9lF_wCpakDa-i1xE3ziEAOQ5jGo7AphNYL9KhB1XA130_assertion a np:Assertion . dgn-np:NP51092.RA4Q9lF_wCpakDa-i1xE3ziEAOQ5jGo7AphNYL9KhB1XA130_provenance a np:Provenance . dgn-np:NP51092.RA4Q9lF_wCpakDa-i1xE3ziEAOQ5jGo7AphNYL9KhB1XA130_publicationInfo a np:PublicationInfo . } dgn-np:NP51092.RA4Q9lF_wCpakDa-i1xE3ziEAOQ5jGo7AphNYL9KhB1XA130_assertion { miriam-gene:6716 a ncit:C16612 . lld:C0848558 a ncit:C7057 . dgn-gda:DGNcf28eacbcf194b04b7d00d3d0278e128 sio:SIO_000628 miriam-gene:6716, lld:C0848558; a sio:SIO_001122 . } dgn-np:NP51092.RA4Q9lF_wCpakDa-i1xE3ziEAOQ5jGo7AphNYL9KhB1XA130_provenance { dgn-np:NP51092.RA4Q9lF_wCpakDa-i1xE3ziEAOQ5jGo7AphNYL9KhB1XA130_assertion dcterms:description "[We have also sequenced a selected material of 37 sporadic cases of more severe hypospadias for mutations in the androgen receptor AR, SRD5A2, and 17beta-hydroxysteroid dehydrogenase HSD17B3 genes and found only two previously described mutations, one in the AR and one in the SRD5A2 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:16174723; prov:wasDerivedFrom dgn-void:gad-20130706; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:gad-20130706 pav:importedOn "2013-07-06"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP51092.RA4Q9lF_wCpakDa-i1xE3ziEAOQ5jGo7AphNYL9KhB1XA130_publicationInfo { this: dcterms:created "2014-10-02T12:32:23+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }